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Cardiomyopathy, infantile hypertrophic

MedGen UID:
412660
Concept ID:
C2748884
Disease or Syndrome
Synonym: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
 
Monarch Initiative: MONDO:0010777
OMIM®: 500006

Professional guidelines

PubMed

Sakai T, Naito AT, Kuramoto Y, Ito M, Okada K, Higo T, Nakagawa A, Shibamoto M, Yamaguchi T, Sumida T, Nomura S, Umezawa A, Miyagawa S, Sawa Y, Morita H, Lee JK, Shiojima I, Sakata Y, Komuro I
Int Heart J 2018 Sep 26;59(5):1096-1105. Epub 2018 Aug 11 doi: 10.1536/ihj.17-730. PMID: 30101858

Recent clinical studies

Etiology

Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Law S, Chun T, Kapur R
J Heart Lung Transplant 2014 Apr;33(4):452-4. Epub 2013 Dec 27 doi: 10.1016/j.healun.2013.12.022. PMID: 24461431
Finsterer J, Stöllberger C, Blazek G
Int J Cardiol 2006 Jun 28;110(3):288-300. Epub 2005 Dec 20 doi: 10.1016/j.ijcard.2005.10.028. PMID: 16364474

Diagnosis

Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Arbustini E, Favalli V, Narula N, Serio A, Grasso M
J Am Coll Cardiol 2016 Aug 30;68(9):949-66. doi: 10.1016/j.jacc.2016.05.096. PMID: 27561770
Arslan A, Poyrazoğlu HG, Kiraz A, Özcan A, Işık H, Ergul AB, Mungan NÖ, Streubel B, Ceylaner S, Altuner Torun Y
Pediatr Int 2016 Mar;58(3):241-243. doi: 10.1111/ped.12873. PMID: 26946079
Law S, Chun T, Kapur R
J Heart Lung Transplant 2014 Apr;33(4):452-4. Epub 2013 Dec 27 doi: 10.1016/j.healun.2013.12.022. PMID: 24461431

Therapy

Gragnaniello V, Deodato F, Gasperini S, Donati MA, Canessa C, Fecarotta S, Pascarella A, Spadaro G, Concolino D, Burlina A, Parenti G, Strisciuglio P, Fiumara A, Casa RD
Ital J Pediatr 2022 Mar 5;48(1):41. doi: 10.1186/s13052-022-01219-4. PMID: 35248118Free PMC Article
Rodriguez-Gonzalez M, Cascales-Poyatos HM, Castellano-Martinez A, Ley-Martos M, Perez-Reviriego AA
Cardiol Young 2021 Apr;31(4):682-684. Epub 2021 Jan 5 doi: 10.1017/S1047951120004679. PMID: 33399035
Davison JE
J Mother Child 2020 Oct 2;24(2):3-8. doi: 10.34763/jmotherandchild.20202402si.2001.000002. PMID: 33554498Free PMC Article
Avula S, Nguyen TM, Marble M, Lilje C
Echocardiography 2017 Apr;34(4):621-624. Epub 2017 Mar 7 doi: 10.1111/echo.13490. PMID: 28266734
Richard E, Douillard-Guilloux G, Caillaud C
IUBMB Life 2011 Nov;63(11):979-86. Epub 2011 Oct 14 doi: 10.1002/iub.529. PMID: 22002928

Prognosis

Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Piekutowska-Abramczuk D, Assouline Z, Mataković L, Feichtinger RG, Koňařiková E, Jurkiewicz E, Stawiński P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rötig A, Prokisch H, Pronicka E, Płoski R, Barcia G, Mayr JA
Am J Hum Genet 2018 Mar 1;102(3):460-467. Epub 2018 Feb 8 doi: 10.1016/j.ajhg.2018.01.008. PMID: 29429571Free PMC Article
Avula S, Nguyen TM, Marble M, Lilje C
Echocardiography 2017 Apr;34(4):621-624. Epub 2017 Mar 7 doi: 10.1111/echo.13490. PMID: 28266734
Arslan A, Poyrazoğlu HG, Kiraz A, Özcan A, Işık H, Ergul AB, Mungan NÖ, Streubel B, Ceylaner S, Altuner Torun Y
Pediatr Int 2016 Mar;58(3):241-243. doi: 10.1111/ped.12873. PMID: 26946079
Law S, Chun T, Kapur R
J Heart Lung Transplant 2014 Apr;33(4):452-4. Epub 2013 Dec 27 doi: 10.1016/j.healun.2013.12.022. PMID: 24461431

Clinical prediction guides

Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Dedeoglu S, Dede E, Oztunc F, Gedikbasi A, Yesil G, Dedeoglu R
Orphanet J Rare Dis 2022 Sep 15;17(1):359. doi: 10.1186/s13023-022-02483-7. PMID: 36109815Free PMC Article
Norrish G, Kolt G, Cervi E, Field E, Dady K, Ziółkowska L, Olivotto I, Favilli S, Passantino S, Limongelli G, Caiazza M, Rubino M, Baban A, Drago F, Mcleod K, Ilina M, McGowan R, Stuart G, Bhole V, Uzun O, Wong A, Lazarou L, Brown E, Daubeney PEF, Lota A, Delle Donne G, Linter K, Mathur S, Bharucha T, Adwani S, Searle J, Popoiu A, Jones CB, Reinhardt Z, Kaski JP
ESC Heart Fail 2021 Dec;8(6):5057-5067. Epub 2021 Sep 6 doi: 10.1002/ehf2.13573. PMID: 34486247Free PMC Article
Bang ML
J Cell Physiol 2017 Jan;232(1):38-52. Epub 2016 Jun 2 doi: 10.1002/jcp.25424. PMID: 27171814
Chen R, Tsuji T, Ichida F, Bowles KR, Yu X, Watanabe S, Hirono K, Tsubata S, Hamamichi Y, Ohta J, Imai Y, Bowles NE, Miyawaki T, Towbin JA; Noncompaction study collaborators
Mol Genet Metab 2002 Dec;77(4):319-25. doi: 10.1016/s1096-7192(02)00195-6. PMID: 12468278

Recent systematic reviews

Wu CW, Caha M, Smoot L, Harris DJ, Roberts AE, Sacharow S, Bodamer O
Mol Genet Metab 2023 Jul;139(3):107626. Epub 2023 Jun 10 doi: 10.1016/j.ymgme.2023.107626. PMID: 37354892
Fassone E, Rahman S
J Med Genet 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. PMID: 22972949

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